I got the MRI results today and the results were good, really the best I could hope for. There was no sign of a tumour on her optic nerve or her brain.
She has a small malformation of one bone in her skull which is apparently characteristic of NF1 and harmless.
The doctor was concerned that Ruby is short. He was quite worried about this, but I don’t think it is such a big issue. My family is full of short, bossy women and as far as I can see it has made no difference to the lives of anyone I know. He would like her to go to the growth clinic for injections of growth hormones at some point but I am very reluctant to do this. I will think it over but I would take a lot of convincing, I think.
He also pointed out that she would probably not be very good at sport, would be uncoordinated and have poor reflexes. I must have boggled because he added defensively that if a child had very sporty parents this could be a significant part of their social lives and self esteem.
Exactly what the future holds for Ruby I am not sure, as NF1 manifests in all kinds of ways along the whole course of a person’s life and it is impossible to know how it will turn out and what symptoms any individual will get. Right now, though, being free of tumours and malformations of the brain and spinal column is great and I am really relieved that the neurologist agreed that her ability to pick up language was much the most important thing, far more important than walking.
I really don’t know how much information is appropriate at this stage, mostly in a defensive move. On one hand, I don’t want to define Ruby in the eyes of casual acquaintances (‘Oh yes, the one with the genetic disease and the mother who bangs on about it’). On the other hand, I can already foresee that I am going to be very frustrated at Swancon because people, especially acquaintances, like to minimise bad things (‘They look perfectly healthy to me!’ ‘Clearly if the first scan for tumours was clear that is what will happen for the rest of her life and you have no need to worry!’ ‘No need to do so much intervening, my kids turned out fine without it!’ ‘Maybe you are over-reacting, after all the MRI was fine!’).
I know worrying about Swancon sounds ridiculous, but, seriously, people will say ‘So what have you been doing?’. And the answer involves a massive back story about my kids and their development and a genetic disorder they won’t have heard of which has a whole heap of ways it can manifest. Maybe the easiest thing to say is… hmmm what else have I been doing? Baking bread, rewatching *Highlander*, thinking about how to make an Emily the tank engine cake for Pearl as this is what she has requested for her birthday, decluttering, trying to figure out how to make an interactive children’s water sculpture on my wall, doing some art. Nothing very interesting; I always dread sounding like a SAHM Stepford mother, which of course is a dreadfully sexist thing to dread being. After all, there’s nothing wrong with doing traditionally female, home-centred activities. Anyway, I digress….
My feeling is that the MRI and neurological results were the most important things in the short term. The next level of importance for Ruby is getting her orthotics fitted so she can stand more easily. And for Pearl, the most important thing is lining up her MRI so we can check on her – after her next paediatrician’s appointment after the con. Once those really pressing things are sorted and I know that they are both not in imminent danger, we can start getting a more peaceful pattern back in our lives.